Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Gabriela Purcarin"'
Autor:
Gabriela Purcarin, Yu-Tze Ng
Publikováno v:
Therapeutic Advances in Neurological Disorders, Vol 7 (2014)
Clobazam is a 1,5-benzodiazepine used successfully worldwide since the 1970s as an anxiolytic and antiepileptic drug. Since its recent Food and Drug Administration (FDA) approval in the United States in 2011 as adjunctive treatment for Lennox–Gasta
Externí odkaz:
https://doaj.org/article/3f04458abc124e4590fdd9904d1aa66b
Autor:
Hanka Venselaar, Jennifer Keller-Ramey, Arjan P.M. de Brouwer, Tiziano Bernasocchi, Amber Begtrup, Michael Parker, Margot I. Van Allen, Koen L.I. van Gassen, Christian Gilissen, Maria J. Nabais Sá, Lisenka E.L.M. Vissers, Ellen R. Elias, Daniela del Gaudio, Sarah L. Sawyer, Bert B.A. de Vries, Farah Kanani, Jean-Philippe Theurillat, Klaas J. Wierenga, Marie-José H. van den Boogaard, Gabriela Purcarin, Rolph Pfundt, Laurens Wiel, Geniver El Tekle
Publikováno v:
American Journal of Human Genetics, 106, 405-411
Am J Hum Genet
American Journal of Human Genetics, 106, 3, pp. 405-411
Am J Hum Genet
American Journal of Human Genetics, 106, 3, pp. 405-411
Recurrent somatic variants in SPOP are cancer specific; endometrial and prostate cancers result from gain-of-function and dominant-negative effects toward BET proteins, respectively. By using clinical exome sequencing, we identified six de novo patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::843ede3d84ff351d393c6427e96b3bea
http://hdl.handle.net/2066/217324
http://hdl.handle.net/2066/217324
Publikováno v:
Clinical Case Reports
Key Clinical Message We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcab85725e4bc1b9f3604b6da86c395b
http://europepmc.org/articles/PMC6132111
http://europepmc.org/articles/PMC6132111
Autor:
David F. Crawford, Svein Isungset Støve, Marina Blenski, John W. Belmont, Klaas J. Wierenga, Thomas Arnesen, Asbjørg Stray-Pedersen, Gabriela Purcarin, Jeffrey J. Kim, Nina McTiernan, Rene Y. McNall-Knapp, Shalini N. Jhangiani, Line M. Myklebust, James R. Lupski, Alexandrea Wadley, Zeynep Coban Akdemir
Publikováno v:
European journal of human genetics : EJHG. 26(9)
The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that catalyzes N-terminal acetylation of ~40% of all human proteins. N-terminal acetylation has several different roles in the cell, including altering protein stability and degradatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f7980caae3cd22271ca485d2e3dc00
https://pubmed.ncbi.nlm.nih.gov/29748569
https://pubmed.ncbi.nlm.nih.gov/29748569
Autor:
Wenmiao Zhu, Fabio Fernandez, Christian P. Schaaf, Jing Zhang, Eric Boerwinkle, William J. Craigen, Matthew Pastore, Tina Barbaro-Dieber, Meng C. Wang, Erin Cooney, Lindsay C. Burrage, Marianne McGuire, Zhiyv Niu, Donna M. Muzny, Kory Keller, Fan Xia, Elise G. Austin, Matthew N. Bainbridge, Chin-To Fong, Richard A. Gibbs, Angus A. Wilfong, Mahshid S. Azamian, Gabriela Purcarin, James R. Lupski, Pilar L. Magoulas, Mary K. Kukolich, Areeg El-Gharbawy, Richard E. Person, Timothy Lotze, Arthur L. Beaudet, Mahim Jain, Yaping Yang, Dennis Bartholomew, Klaas J. Wierenga, Anne Chun Hui Tsai, Chester W. Brown, Christine M. Eng, Seema R. Lalani
5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. We describe 11 individuals with clinical fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194de1fc2b305a0887cf37b690614ac8
https://europepmc.org/articles/PMC4225583/
https://europepmc.org/articles/PMC4225583/